【摘要】：目的研究KIR 2DL4基因測(cè)序分型中序列及分型結(jié)果"異常"的原因。方法 2016年5月對(duì)KIR 2DL4基因測(cè)序分型時(shí)檢出的2例雜合堿基位置峰高不平衡、判定為模棱兩可結(jié)果或無(wú)完全匹配分型結(jié)果的標(biāo)本,采集新鮮外周血樣,提取mRNA,反轉(zhuǎn)錄成c DNA后,進(jìn)行c DNA分子克隆和單體型測(cè)序;同時(shí)采用熒光定量法檢測(cè)基因組DNA中2DL4基因的拷貝數(shù)。結(jié)果分子克隆和單體型測(cè)序表明,1例標(biāo)本攜帶正常的KIR 2DL4*00102,*00501及*011等位基因;另一標(biāo)本中檢出了KIR 2DL4*00102,*00501及*00602等位基因。2例標(biāo)本中均檢出了3種不同的KIR 2DL4等位基因,無(wú)新等位基因檢出。熒光定量PCR實(shí)驗(yàn)證實(shí)這2例標(biāo)本KIR 2DL4拷貝數(shù)均為3個(gè)。結(jié)論人類KIR單體型上KIR 2DL4基因的拷貝數(shù)存在多樣性,當(dāng)出現(xiàn)雜合堿基位置峰高不平衡、無(wú)與之完全匹配分型結(jié)果,并非由新等位基因所致。
[Abstract]:Objective to study the causes of abnormal sequencing and typing of KIR 2DL4 gene. Methods two cases of heterozygous base position peak height imbalance were detected during sequencing and typing of KIR 2DL4 gene in May 2016. the samples were identified as ambiguous results or without perfect matching typing results. Fresh peripheral blood samples were collected and mRNA, was extracted and reverse transcribed into c DNA. C DNA molecular cloning and haplotype sequencing were carried out. At the same time, the copy number of 2DL4 gene in genomic DNA was detected by fluorescence quantitative method. Results Molecular cloning and haplotype sequencing showed that one sample carried normal KIR 2DL4 鈮，

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